Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis

PURPOSE: Emerging studies suggest that low-pass genome sequencing (GS) provides additional diagnostic yield of clinically significant copy-number variants (CNVs) compared with chromosomal microarray analysis (CMA). However, a prospective back-to-back comparison evaluating accuracy, efficacy, and inc...

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Udgivet i:Genet Med
Main Authors: Wang, Huilin, Dong, Zirui, Zhang, Rui, Chau, Matthew Hoi Kin, Yang, Zhenjun, Tsang, Kathy Yin Ching, Wong, Hoi Kin, Gui, Baoheng, Meng, Zhuo, Xiao, Kelin, Zhu, Xiaofan, Wang, Yanfang, Chen, Shaoyun, Leung, Tak Yeung, Cheung, Sau Wai, Kwok, Yvonne K., Morton, Cynthia C., Zhu, Yuanfang, Choy, Kwong Wai
Format: Artigo
Sprog:Inglês
Udgivet: 2019
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7042067/
https://ncbi.nlm.nih.gov/pubmed/31447483
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-019-0634-7
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